Linked Data
ClinVar Variation Id:
1336070
dbSNP Id:
rs765429450
ExAC:
16:56370757 C / T
gnomAD v2:
16-56370757-C-T
gnomAD v4:
16-56336845-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56336845C>T , CM000678.2:g.56336845C>T | GRCh38 |
| NC_000016.9:g.56370757C>T , CM000678.1:g.56370757C>T | GRCh37 |
| NC_000016.8:g.54928258C>T | NCBI36 |
| NG_042800.1:g.150507C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.708C>T | ENSP00000262494.7:p.His236= | |
| ENST00000262493.12:c.708C>T MANE Select | ENSP00000262493.6:p.His236= | |
| ENST00000262494.12:c.708C>T | ENSP00000262494.7:p.His236= | |
| ENST00000562316.6:c.375C>T | ENSP00000457238.2:p.His125= | |
| ENST00000564727.2:c.12C>T | ENSP00000454971.2:p.His4= | |
| ENST00000568375.2:c.100C>T | ||
| ENST00000638185.1:n.923C>T | ||
| ENST00000638210.1:n.1008C>T | ||
| ENST00000638705.1:c.708C>T | ENSP00000491223.1:p.His236= | |
| ENST00000638836.1:n.618C>T | ||
| ENST00000639055.1:n.1429C>T | ||
| ENST00000639251.1:n.609C>T | ||
| ENST00000639268.1:c.343C>T | ||
| ENST00000639341.1:c.233C>T | ||
| ENST00000639770.1:c.746C>T | ENSP00000491999.1:n.746C>T | |
| ENST00000640390.1:n.638C>T | ||
| ENST00000640469.1:c.72C>T | ENSP00000491875.1:p.His24= | |
| ENST00000640560.1:n.484C>T | ||
| ENST00000640893.1:c.*106C>T | ENSP00000492677.1:n.*106C>T | |
| ENST00000262493.10:c.708C>T | ENSP00000262493.6:p.His236= | |
| ENST00000262494.11:c.708C>T | ENSP00000262494.7:p.His236= | |
| ENST00000568375.1:n.100C>T | ||
| NM_020988.2:c.708C>T | NP_066268.1:p.His236= | |
| NM_138736.2:c.708C>T | NP_620073.2:p.His236= | |
| XM_011523003.1:c.582C>T | XP_011521305.1:p.His194= | |
| XM_011523003.3:c.582C>T | XP_011521305.1:p.His194= | |
| NM_020988.3:c.708C>T MANE Select | NP_066268.1:p.His236= | |
| NM_138736.3:c.708C>T | NP_620073.2:p.His236= |